RGD:329362885 Rat Genome Database

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Variant: RGD:329362885 -  Homo sapiens

RGD ID: 329362885
ClinVar ID: CV2464706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNA21  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 21,166,415
GRCh38 9 21,166,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_002175.2:c.197T>C
NG_030029.1:g.5245T>C
NC_000009.12:g.21166416A>G
NC_000009.11:g.21166415A>G
More... 		03/02/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:IFNA21
Accession:NM_002175
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSFSLLMAVLVLSYKSICSLGCDLPQTHSLGNRRALILLAQMGRISPFSCLKDRHDFGFPQEESDGNQFQKAQAISVL
HEMIQQTFNLFSTKDSSATWEQSLLEKFSTELNQQLNDLEACVIQEVGVEETPLMNVDSILAVKKYFQRITLYLTEKKYS
PCAWEVVRAEIMRSFSLSKIFQERLRRKE*
.


Database
Acc Id
Source(s)
ClinVar RCV004284680 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IFNA21 CLINVAR
OMIM 147584 CLINVAR